Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2595-2598

  Razzaghian, Hamid Reza ^a   Shahi, Mehdi Hayat ^a   Forsberg, Lars A ^a   De Ståhl, Teresita Diaz ^a   Absher, Devin ^b   Dahl, Niklas ^a   Westerman, Maxwell P ^c   Dumanski, Jan P ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^c MOUNT SINAI HOSPITAL   (United States)

Author keywords

Aneuploidy; Chromosome X; Chromosome Y; Copy number variation; Genetic variation; Monozygotic twins; Sickle cell trait; Somatic mosaicism; Ullrich Turner syndrome

Indexed keywords

DNA;

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; CHROMOSOME SEGREGATION; COPY NUMBER VARIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XY; MEIOSIS; MITOSIS; MONOSOMY X; MONOZYGOTIC TWINS; PRIORITY JOURNAL; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; Y CHROMOSOME; CHROMOSOME 18; GENETIC VARIABILITY; GENETICS; MALE; MIDDLE AGED; TURNER SYNDROME;

ANEMIA, SICKLE CELL; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; FEMALE; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; TURNER SYNDROME; TWINS, MONOZYGOTIC;

EID: 78349249402     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33604     Document Type: Article

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